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Dominant‐negative SOX9 mutations in campomelic dysplasia
Campomelic dysplasia (CD) is an autosomal dominant, perinatal lethal skeletal dysplasia characterized by a small chest and short long bones with bowing of the lower extremities. CD is the result of heterozygosity for mutations in the gene encoding the chondrogenesis master regulator, SOX9. Loss‐of‐f...
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| 出版年: | Hum Mutat |
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| 主要な著者: | , , , , , , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
2019
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7608528/ https://ncbi.nlm.nih.gov/pubmed/31389106 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.23888 |
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